Varaico: Literature-Extracted Genetic Variants

Gene:GLDC
Variant:p.G200delFs

GLDC

361 papers

RefSeq Summary

Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H...

Pfam Domains

GDC-Paa 65–488UCSCGlycine cleavage system P-protein
Beta_elim_lyaseaa 585–747UCSCBeta-eliminating lyase
GcvP2_Caa 829–950UCSCGlycine dehydrogenase, C-terminal domain

Gene Aliases

HGNC Name

glycine decarboxylase

HGNC Alias Symbols

GCSP; NKH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000170.3
p.G200delFs
c.600delC
Surrounding Variants
1 paper
NM_000170.3
p.T201fs
c.601_602fs
1 paper
NM_000170.3
p.T201S
c.601A>T
1 paper
NM_000170.3
p.T201S
c.602C>G
9 papers
NM_000170.3
p.A202V
c.605C>T
1 paper
NM_000170.3
p.A203S
c.607G>T
1 paper
NM_000170.3
p.A203P
c.607G>C
1 paper
NM_000170.3
p.E199Q
c.595G>C
2 papers
NM_000170.3
p.D198E
c.594T>G
2 papers
NM_000170.3
p.D198E
c.594T>A
3 papers
NM_000170.3
p.A203V
c.608C>T
3 papers
NM_000170.3
p.D198V
c.593A>T
2 papers
NM_000170.3
p.L197V
c.589C>G
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